"Biomedical Innovation Departament, CIEMAT"[submitter] AND "FERMT1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224168	NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del)	FERMT1 (I623del)	Deletion (inframe_deletion)	Kindler syndrome	GPathogenic
Select item 1047998	NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter)	FERMT1 (Q460*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic
Select item 1048114	NM_017671.5(FERMT1):c.1264+363_1372-602del	FERMT1	Deletion (splice acceptor variant +1 more)	Kindler syndrome	GPathogenic
Select item 419594	NM_017671.5(FERMT1):c.1371+4A>G	FERMT1	Single nucleotide variant (intron variant)	Kindler syndrome +1 more	GPathogenic
Select item 1047997	NM_017671.5(FERMT1):c.1264+1G>A	FERMT1	Single nucleotide variant (splice donor variant)	Kindler syndrome	GPathogenic
Select item 224165	NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro)	FERMT1 (S400P)	Single nucleotide variant (missense variant)	Kindler syndrome	GPathogenic
Select item 1047996	NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter)	FERMT1 (S114*)	Single nucleotide variant (nonsense)	Kindler syndrome	GPathogenic

ClinVar